Two novel mutations detected in Japanese patients with oculocutaneous albinism

スポンサーリンク

概要

• 論文の詳細を見る
• 2006-11-01

著者

• TOMITA Yasushi

  Department of Dermatology, Nagoya University Graduate School of Medicine

• Tomita Yasushi

  名古屋大学 医学系研究科皮膚科学

• Tomita Y

  Department Of Dermatology Nagoya University Graduate School Of Medicine

• Suzuki Noriyuki

  Department of Cardiology, St Marianna University School of Medicine

• Tomita Yasushi

  名古屋大学 医学系研究科皮膚病態学

• Tomita Yasushi

  Department Of Cardiology Nagoya Daini Red Cross Hospital

• Tomita Yasushi

  Department Of Dermatology Nagoya University Graduate School Of Medicine

• INAGAKI Katsuhiko

  Department of Applied Physics, Hokkaido University

• SUZUKI Tamio

  Department of Dermatology, Nagoya University Graduate School of Medicine

• ITO Shiro

  Department of Dermatology, Nagoya University Graduate School of Medicine

• Inagaki Katsuhiko

  Department Of Dermatology Nagoya University Graduate School Of Medicine

• Inagaki Katsuhiko

  Department Of Applied Computer Engineering Tokai University

• Ito Shiro

  Department Of Dermatology Nagoya University Graduate School Of Medicine

• Suzuki Tamio

  Department Of Dermatology Yamagata University School Of Medicine

• Suzuki Tamio

  Department Of Dermatology Nagoya University Graduate School Of Medicine

• KONO Michihiro

  Department of Dermatology, Nagoya University Graduate School of Medicine

• IWAMOTO Takao

  Department of Pediatrics, Akiru Municipal General Hospital

• MOCHIZUKI Narutaka

  Department of Pediatrics, Sakai Municipal Hospital

• Iwamoto Takao

  Department Of Pediatrics Akiru Municipal General Hospital

• Kono Michihiro

  Department Of Dermatology Nagoya University Graduate School Of Medicine

• Suzuki Noriyuki

  Department Of Cardiology Okazaki City Hospital

• Suzuki Noriyuki

  Department Of Dermatology Nagoya University Graduate School Of Medicine

• Mochizuki Narutaka

  Department Of Pediatrics Sakai Municipal Hospital

• Suzuki Noriyuki

  Department Of Applied Chemistry Faculty Of Engineering Kanagawa Institute Of Technology

• Tomiya Yasushi

  Department Of Dermatology Nagoya University Graduate School Of Medicine

• Mochizuki Narutaka

  Department Of Neonatal Medicine Osaka Medical Center And Research Institute For Maternal And Child Health

• ITO SHIRO

  Department of Chemical Engineering, Tokyo Institute of Technology

関連論文

• Genotyping of Candida albicans by Fragment Analysis of Microsatellites Combined with 25S rDNA and RPS-based Strategies
• Physiological Role of Endothelin-1 in Nonworking Muscles During Exercise in Healthy Subjects
• PJ-126 Circadian variation of the effect of blood pressure on the pulse wave velocity(Hypertension, Clinical 3 (H) : PJ21)(Poster Session (Japanese))
• Case of hypereosinophilic syndrome with cutaneous necrotizing vasculitis
• Development of a new nomogram for predicting the probability of a positive initial prostate biopsy in Japanese patients with serum PSA levels less than 10ng/mL
• Molecular Cloning of cDNA Encoding a Novel Microphthalmia-Associated Transcription Factor Isoform with a Distinct Amino-Terminus
• Epidemiological study of Candida species in cutaneous candidiasis based on PCR using a primer mix specific for the DNA topoisomerase II gene
• PCR and PCR-RFLP techniques targeting the DNA topoisomerase II gene for rapid clinical diagnosis of the etiologic agent of dermatophytosis
• PJ-460 Can BNP and Troponin T Predict CAD and Mortality in Patients with CKD at Initiation of Renal Replacement Therapy?(PJ078,Kidney/Renal Circulation/CKD 4 (H),Poster Session (Japanese),The 73rd Annual Scientific Meeting of The Japanese Circulation Soci
• PJ-043 Can N-acetylcysteine Reduce Contrast-induced Nephropathy and Clinical Events in Patients Undergoing Primary Angioplasty for Acute Myocardial Infarction?(PJ007,Kidney/Renal Circulation/CKD 1 (H),Poster Session (Japanese),The 73rd Annual Scientific M
• The effect of the long-term cultivation on telomere length and morphology of cultured epidermis
• Dyschromatosis symmetrica hereditaria associated with neurological disorders
• Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1)
• Supercluster of Electrons in Ultrathin TaSe_2 Nanocrystals(Condensed Matter : Electronic Structure, Electrical, Magnetic and Optical Properties)
• Usefulness of tonsil forceps in radical retropubic prostatectomy
• Comparison of Gleason grade and score between preoperative biopsy and prostatectomy specimens in prostate cancer
• Kidney stone disease and risk factors for coronary heart disease
• Significance of capsular atachment and invasion of cancer tissues prostate cancer
• Progression of prostate cancer to neuroendocrine cell tumor
• Change in the ratio of free-to-total prostate-specific antigen during progression of advanced prostate cancer
• Immunohistochemical finding of α-1-antichymotrypsin in tissues of benign prostatic hyperplasia and prostate cancer
• Primary cutaneous T-cell lymphoma of unspecified type with cytotoxic phenotype : Clinicopathological analysis of 27 patients
• Investigation of the IVS5 +5G → A splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome
• Characterization of the human RAB38 and RAB7 genes : exclusion of new major pathological loci for Japanese OCA
• Genotype analysis of Candida albicans isolates obtained from different body locations of patients with superficial candidiasis using PCRs targeting 25S rDNA and ALT repeat sequences of the RPS
• Genotyping of Candida albicans on the basis of polymorphisms of ALT repeats in the repetitive sequence (RPS)
• EVALUATION OF CETIRIZINE HYDROCHLORIDE BASED FOR CHRONIC URTICARIA
• Interval sentinel lymph nodes in patients with cutaneous melanoma : A single-institution study in Japan
• Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria
• Primary Cutaneous Ki-1^+ Anaplastic Large Cell Lymphoma : A Morphologic, Immunohistochemical and Genetic Study of an Indolent Case
• Successful topical hemotherapy with a new occlusive dressing for an intractable ulcer on the toe
• Effects of topical vehicles on growth of the lipophilic Malassezia species
• Antigenic components of Malassezia species for immunoglobulin E antibodies in sera of patients with atopic dermatitis
• Isolation and Characterization of a Major Antigenic Component of Malassezia globosa to IgE Antibodies in Sera of Patients with Atopic Dermatitis
• Two novel mutations detected in Japanese patients with oculocutaneous albinism
• Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations
• Detection of various types of human papillomavirus DNA, mainly belonging to the cutaneous-group, more frequently in normal tissue than in squamous cell carcinomas of the lip
• A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1)
• Polymorphic sequences of the tyrosinase gene : allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis
• Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9
• R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism
• Dermoscopic evaluation of vascular structure of various skin tumors in Japanese patients
• Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria : Histological observation and comparison of genotypes and clinical phenotypes
• Mechanism of the Inhibitory Effect of Tranexamic Acid on Melanogenesis in Cultured Human Melanocytes in the Presence of Keratinocyte-conditioned Medium
• Establishment of a Screening System for Chemicals that Upregulate a Melanoma Antigen, Melan-A/MART-1
• Keratoacanthoma Centrifugum Marginatum Arising from a Scar after Skin Injury
• Successful treatment of warts with a combination of maxacalcitol ointment and salicylic acid sticking plaster
• Fixed Drug Eruption Due to Afloqualone : The First Reported Case
• Oculocutaneous Albinism and Analysis of Tyrosinase Gene in Japanese Patients
• Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4
• A novel MITF splice site mutation in a family with Waardenburg syndrome
• Linear immunoglobulin A bullous dermatosis associated with herpes simplex virus infection and Kawasaki disease
• Does N-Acetylcysteine Reduce the Incidence of Contrast-Induced Nephropathy and Clinical Events in Patients Undergoing Primary Angioplasty for Acute Myocardial Infarction?
• Application of Distance Learning Support System SEGODON to Exercise-type Classes (特集 コラボレーション支援) -- (協調学習支援)
• The Prediction of Attenuation Due to Aircraft's Flying across the Earth-Satellite Link at SHF
• Mutation analyses of patients with dyschromatosis symmetrica hereditaria : Five novel mutations of the ADAR1 gene
• A Case of Refractory Bullous Pemphigoid with Plasmapheresis-Associated Thrombopenia : Efficacy of Pulsed Intravenous Cyclophosphamide Therapy
• The Successful Use of Topical Tacrolimus Treatment for a Chronic Actinic Dermatitis Patient with Complications of Idiopathic Leukopenia
• Comparison of the melanogenesis in human black and light brown melanocytes
• Recurrent Dermatofibrosarcoma Protuberans with Myxoid and Fibrosarcomatous Changes Paralleled by Loss of CD34 Expression
• Sterol composition of dinoflagellates : Different abundance and composition in heterotrophic species and resting cysts
• Cantilever Dynamics in Ultrasonic Force Microscopy (Short Note)
• Dermoscopic features in a case of dyschromatosis symmetrica hereditaria
• A gait study for a one-leg-disabled hexapod robot
• Gait Study for Five-legged Walking by Using Numerical Computation
• Regioselective Preparation of N-Substituted 3, 5-Diamino-1, 2, 4-oxadiazoles
• Pyrolysis-GC analyses of the recent cyanobacterial mats reacted with H_2S under mild condition
• Dystrophic epidermolysis bullosa pruriginosa of elderly onset
• Therapy-related myelodysplastic syndrome developed by dacarbazine, nimustine hydrochloride and vincristine sulfate (DAV) therapy for patient with malignant melanoma
• Microsatellite-based Genotyping of Candida albicans Isolated from Patients with Superficial Candidiasis
• A conversion-dependent kinetic model (SIMPLE-Ro) for vitrinite reflectance
• Relationship among gasoline-range hydrocarbon distribution of petroleum, source rock type, and maturity level based on multivariate statistical approach
• Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome
• New 2-Aryl-1,4-naphthoquinone-1-oxime Methyl Ether Compound Induces Microtubule Depolymerization and Subsequent Apoptosis
• A new tool for transvenous pacing lead extraction
• Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
• Oculocutaneous albinism type 3 : A Japanese girl with novel mutations in TYRP1 gene
• The Characteristic of Premature Ventricular Complex from Right Ventricular Outflow Tract Inducing Idiopathic Ventricular Fibrillation and Ventricular Tachycardia
• Transport Properties in a Single Domain of Microscale Sr2RuO4 Single Crystals
• A definition of separation efficiency.
• Laminar-turbulent velocity profile transition for flows in concentric annuli, parallel plates and pipes.
• A DEFINITION OF QUALITY OF MIXEDNESS
• TURBULENCE IN IMPELLER STREAM IN A STIRRED VESSEL
• Turbulent swirling flow in a circular pipe.
• MEASUREMENT OF THREE-DIMENSIONAL FLUCTUATING LIQUID VELOCITIES
• A STUDY OF MASS TRANSPORT IN TURBULENT FLOW
• TRANSITION FROM LAMINAR TO TURBULENT FLOW OF LIQUID IN A CIRCULAR PIPE
• Prediction of additional lymph node positivity and clinical outcome of micrometastases in sentinel lymph nodes in cutaneous melanoma : A multi-institutional study of 450 patients in Japan
• Nephrogenic systemic fibrosis : A case report and review on Japanese patients

もっと見る 閉じる

スポンサーリンク